ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.1813C>T (p.Arg605Ter) (rs991227431)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578618 SCV000680530 pathogenic not provided 2017-02-24 criteria provided, single submitter clinical testing The R605X nonsense variant in the IGHMBP2 gene has been reported previously in association with SMARD1 (Grohmann et al., 2003). R605X is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.
Inherited Neuropathy Consortium RCV000790272 SCV000929675 uncertain significance Distal spinal muscular atrophy no assertion criteria provided literature only
Invitae RCV000642633 SCV000764320 pathogenic Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 2017-09-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg605*) in the IGHMBP2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with autosomal recessive spinal muscular atrophy with respiratory distress type 1 (PMID: 14681881) and Charcot-Marie Tooth disease type 2 (PMID: 25439726). Loss-of-function variants in IGHMBP2 are known to be pathogenic (PMID: 14681881, 25439726, 25568292). For these reasons, this variant has been classified as Pathogenic.

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